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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 1
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1975 6
1976 4
1977 5
1978 11
1979 6
1980 10
1981 17
1982 6
1983 11
1984 12
1985 15
1986 17
1987 17
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1989 33
1990 33
1991 37
1992 36
1993 40
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1998 45
1999 47
2000 58
2001 60
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2003 84
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2005 86
2006 64
2007 86
2008 95
2009 88
2010 107
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2012 110
2013 126
2014 151
2015 158
2016 148
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2,952 results

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Quoted phrase not found in phrase index: "Epilepsy-microcephaly-skeletal dysplasia syndrome"
Page 1
Autoimmune manifestations associated with myelodysplastic syndromes.
Grignano E, Jachiet V, Fenaux P, Ades L, Fain O, Mekinian A. Grignano E, et al. Ann Hematol. 2018 Nov;97(11):2015-2023. doi: 10.1007/s00277-018-3472-9. Epub 2018 Aug 8. Ann Hematol. 2018. PMID: 30091023 Free article. Review.
Autoimmune disorders (ADs) are encountered in 10 to 20% of patients with myelodysplastic syndromes (MDS). Available data suggest that ADs concern more often younger patients with higher risk IPSS. MDS subtypes associated with ADs are mainly MDS with single lineage dyspl …
Autoimmune disorders (ADs) are encountered in 10 to 20% of patients with myelodysplastic syndromes (MDS). Available data suggest that …
Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T. Siddique AW, et al. J Ayub Med Coll Abbottabad. 2019 Apr-Jun;31(2):290-292. J Ayub Med Coll Abbottabad. 2019. PMID: 31094135 Free article.
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. ...The family had two previous babies with similar features who died in infancy. This is a first reported case of Yunis-Varon syndrome in Pakistan....
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. ...The family had …
Glenoid Dysplasia.
Abboud JA, Bateman DK, Barlow J. Abboud JA, et al. J Am Acad Orthop Surg. 2016 May;24(5):327-36. doi: 10.5435/JAAOS-D-15-00032. J Am Acad Orthop Surg. 2016. PMID: 27055054 Review.
Glenoid dysplasia may occur as a primary isolated condition or in association with various syndromes. ...Glenoid dysplasia has been associated with instability and premature glenohumeral arthritis, although the clinical presentation is highly variable. ...
Glenoid dysplasia may occur as a primary isolated condition or in association with various syndromes. ...Glenoid dysplasia …
Controversies surrounding Jarcho-Levin syndrome.
Cornier AS, Ramirez N, Carlo S, Reiss A. Cornier AS, et al. Curr Opin Pediatr. 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. Curr Opin Pediatr. 2003. PMID: 14631208 Review.
This admixture of phenotypes under Jarcho-Levin syndrome has allowed some confusion in terms of phenotype, prognosis, and mortality. ...Based on these findings, we have divided these phenotypes into spondylothoracic dysplasia and spondylocostal dysostosis. SU …
This admixture of phenotypes under Jarcho-Levin syndrome has allowed some confusion in terms of phenotype, prognosis, and mort …
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA. Parisi MA. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876931 Free PMC article. Review.
In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenil …
In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal …
Caudal duplication syndrome: 10-year experiences with a comprehensive literature review.
Wang K, Yang L, Peng C, Pang W, Wang Z, Zhang D, Wu D, Chen Y. Wang K, et al. Pediatr Surg Int. 2022 Sep;38(9):1283-1289. doi: 10.1007/s00383-022-05159-2. Epub 2022 Jul 3. Pediatr Surg Int. 2022. PMID: 35780394 Review.
Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, scoliosis, and hemivertebra were noticed in 28 patients and accessory dysplasia lower limbs were found in 10 patients. Prognosis …
Spinal cord anomalies were showed as meningomyeloceles and lipomas in 13 and 3 patients. Vertebral anomalies of bifid, dysplasias, sc …
Pathogenic mechanisms in osteochondrodysplasias.
Stanescu V, Stanescu R, Maroteaux P. Stanescu V, et al. J Bone Joint Surg Am. 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. J Bone Joint Surg Am. 1984. PMID: 6376516 Review.
This suggested that in this syndrome there is a structural alteration of the type-II collagen molecule. There was an accumulation of intracellular lipid in pyknodysostosis and in hypochondrogenesis, and of glycoproteins in several atypical cases of spondyloepiphyseal dy …
This suggested that in this syndrome there is a structural alteration of the type-II collagen molecule. There was an accumulation of …
Brugada syndrome--an update.
Satish OS, Yeh KH, Wen MS. Satish OS, et al. Chang Gung Med J. 2005 Feb;28(2):69-76. Chang Gung Med J. 2005. PMID: 15880981 Free article. Review.
Approximately 50% of patients with Brugada syndrome noted to have familial occurrence, this suggests a genetic component of the disease. Mutations in gene SCN5A, an encoder for human cardiac sodium channel on chromosome 3p21, causes Brugada syndrome. Before consider …
Approximately 50% of patients with Brugada syndrome noted to have familial occurrence, this suggests a genetic component of the disea …
The preleukemic syndrome (hemopoietic dysplasia).
Linman JW, Bagby GC Jr. Linman JW, et al. Cancer. 1978 Aug;42(2 Suppl):854-64. doi: 10.1002/1097-0142(197808)42:2+<854::aid-cncr2820420707>3.0.co;2-w. Cancer. 1978. PMID: 356956 Review.
The clinical and laboratory features of the hematologic disorder preceding overt, blast-cell leukemia (i.e., the "preleukemic syndrome" or "hemopoietic dysplasia") are described, and diagnostic criteria and approaches to management are considered. This hematologic …
The clinical and laboratory features of the hematologic disorder preceding overt, blast-cell leukemia (i.e., the "preleukemic syndrome …
Endocrine tumours of the stomach.
Delle Fave G, Capurso G, Milione M, Panzuto F. Delle Fave G, et al. Best Pract Res Clin Gastroenterol. 2005 Oct;19(5):659-73. doi: 10.1016/j.bpg.2005.05.002. Best Pract Res Clin Gastroenterol. 2005. PMID: 16253892 Review.
Three types of tumour may be distinguished on the basis of the background gastric pathology: type I, which develops in atrophic body gastritis (ABG); type II, which is associated with multiple endocrine neoplasia and Zollinger-Ellison syndrome; and the sporadic type III, w …
Three types of tumour may be distinguished on the basis of the background gastric pathology: type I, which develops in atrophic body gastrit …
2,952 results